This Month in Genetics

Many of the genes considered to include actionable incidental findings, according to recommendations by the American College of Medical Genetics and Genomics, are cardiac genes implicated in arrhythmia and sudden cardiac death. Researchers classically seek variation in these genes to explain overt cardiac phenotypes in patients, but by definition, an incidental finding is one that does not explain the referring diagnosis. Because of this dichotomy, van Driest et al. used an unselected adult cohort to assess the presence of relevant cardiac phenotypes, as gleaned from electronic medical records, in individuals with variation in two of these actionable genes, KCNH2 and SCN5A.
Source: The American Journal of Human Genetics - Category: Genetics & Stem Cells Authors: Tags: Editors ’ Corner Source Type: research